ClinVar (all) for Orgtrack (Select 505588) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 984438	NM_001308120.2:c.2339_3238del	TOGARAM1	Deletion	Familial aplasia of the vermis	GPathogenic
Select item 983529	NM_001258244.2(TMEM218):c.175C>T (p.Arg59Ter)	TMEM218 (R59* +3 more)	Single nucleotide variant (nonsense +2 more)	Meckel syndrome, type 4	GPathogenic
Select item 983528	NM_001258244.2(TMEM218):c.26G>T (p.Gly9Val)	TMEM218 (G44V +1 more)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 983527	NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys)	TMEM218 (R80C +2 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 39	GLikely pathogenic
Select item 983526	NM_001258244.2(TMEM218):c.239G>A (p.Arg80His)	TMEM218 (R80H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 979060	NM_001308120.2(TOGARAM1):c.5182C>T (p.Arg1728Ter)	TOGARAM1 (R1675* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis	GPathogenic
Select item 979059	NM_001308120.2(TOGARAM1):c.1112C>A (p.Ala371Asp)	TOGARAM1 (A371D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 979058	NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter)	TOGARAM1 (S1083*)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis	GPathogenic
Select item 979055	NM_001308120.2(TOGARAM1):c.1084C>T (p.Gln362Ter)	TOGARAM1 (Q362*)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis	GPathogenic
Select item 979054	NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys)	TOGARAM1 (R1311C)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GPathogenic
Select item 979053	NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)	TOGARAM1 (L375P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 917940	NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp)	TOGARAM1 (R368W)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GPathogenic
Select item 430823	NM_016030.6(TRAPPC12):c.1880C>T (p.Ala627Val)	TRAPPC12, TRAPPC12-AS1 (A627V)	Single nucleotide variant (missense variant)	Progressive childhood encephalopathy +1 more	GPathogenic/Likely pathogenic
Select item 430822	NM_016030.6(TRAPPC12):c.360dup (p.Glu121fs)	TRAPPC12 (E121fs)	Duplication (frameshift variant)	Progressive childhood encephalopathy +1 more	GPathogenic/Likely pathogenic
Select item 427939	NM_001352754.2(ARMC9):c.1336C>T (p.Arg446Cys)	ARMC9 (R446C +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
Select item 427938	NM_001352754.2(ARMC9):c.1211-434_1335-1595delinsGTTTGTTTGTTTGTTTGCATTA	ARMC9	Indel (splice acceptor variant +1 more)	Joubert syndrome 30 +1 more	GPathogenic
Select item 427937	NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser)	ARMC9 (R343S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 30	GUncertain significance
Select item 427936	NM_001352754.2(ARMC9):c.1559C>T (p.Pro520Leu)	ARMC9 (P520L +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 30 +2 more	GPathogenic/Likely pathogenic
Select item 427935	NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg)	ARMC9 (G492R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 427934	NM_001352754.2(ARMC9):c.1474+1G>C	ARMC9	Single nucleotide variant (splice donor variant)	Joubert syndrome 30 +2 more	GPathogenic/Likely pathogenic
Select item 427933	NM_001352754.2(ARMC9):c.259C>T (p.Arg87Ter)	ARMC9 (R87*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 427932	NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys)	ARMC9 (R343C +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 30 +1 more	GPathogenic/Likely pathogenic
Select item 427931	NM_001352754.2(ARMC9):c.51+5G>T	ARMC9	Single nucleotide variant (intron variant)	Joubert syndrome 30	GUncertain significance
Select item 427930	NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg)	ARMC9 (G69R)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 217731	NM_153704.6(TMEM67):c.2322+5del	TMEM67	Deletion (intron variant)	Joubert syndrome 6	GLikely pathogenic
Select item 217730	NM_153704.6(TMEM67):c.2661+5G>A	TMEM67	Single nucleotide variant (intron variant)	Joubert syndrome 6	GLikely pathogenic
Select item 217729	NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)	TMEM67 (L615F +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 11 +5 more	GConflicting classifications of pathogenicity
Select item 217728	NM_153704.6(TMEM67):c.1081G>T (p.Glu361Ter)	TMEM67 (E280* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 6	GPathogenic
Select item 217727	NM_153704.6(TMEM67):c.2801G>A (p.Gly934Glu)	TMEM67 (G853E +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GPathogenic
Select item 217726	NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)	TMEM67 (T291K +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +8 more	GPathogenic/Likely pathogenic
Select item 217725	NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	TMEM67 (R360C +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +23 more	GConflicting classifications of pathogenicity
Select item 217724	NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter)	TMEM67 (R370* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis +3 more	GPathogenic
Select item 217723	NM_153704.6(TMEM67):c.2522A>C (p.Gln841Pro)	TMEM67 (Q760P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 217722	NM_153704.6(TMEM67):c.2825T>G (p.Phe942Cys)	TMEM67 (F861C +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 217721	NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln)	TMEM67 (R172Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 217720	NM_153704.6(TMEM67):c.1073C>T (p.Pro358Leu)	TMEM67 (P277L +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 217719	NM_153704.6(TMEM67):c.1126C>G (p.Gln376Glu)	TMEM67 (Q295E +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GPathogenic
Select item 217718	NM_153704.6(TMEM67):c.2368C>A (p.His790Asn)	TMEM67 (H709N +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GPathogenic
Select item 217717	NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter)	TMEM67 (R683* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 6 +8 more	GPathogenic
Select item 217716	NM_153704.6(TMEM67):c.730A>G (p.Thr244Ala)	TMEM67 (T163A +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GPathogenic
Select item 217715	NM_153704.6(TMEM67):c.244C>T (p.Pro82Ser)	TMEM67 (P82S)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 217714	NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg)	TMEM67 (P82R)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 6 +3 more	GConflicting classifications of pathogenicity
Select item 217713	NM_153704.6(TMEM67):c.1453C>T (p.Pro485Ser)	TMEM67 (P404S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GPathogenic
Select item 217712	NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter)	TMEM67 (C100*)	Single nucleotide variant (nonsense +2 more)	Joubert syndrome 6 +7 more	GPathogenic
Select item 217711	NM_153704.6(TMEM67):c.978+3A>G	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 217710	NM_153704.6(TMEM67):c.769A>G (p.Met257Val)	TMEM67 (M176V +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +7 more	GPathogenic/Likely pathogenic
Select item 217709	NM_153704.6(TMEM67):c.389C>G (p.Pro130Arg)	TMEM67 (P130R)	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 6	GPathogenic
Select item 217708	NM_153704.6(TMEM67):c.1911C>A (p.Phe637Leu)	TMEM67 (F556L +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GPathogenic
Select item 217707	NM_153704.6(TMEM67):c.1674+3A>G	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 217706	NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)	TMEM216	Single nucleotide variant (synonymous variant)	Joubert syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 217705	NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)	TMEM216 (R12C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 217704	NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)	TMEM216 (L133* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +4 more	GPathogenic/Likely pathogenic
Select item 217703	NM_015631.6(TCTN3):c.3G>A (p.Met1Ile)	LOC130004408, TCTN3 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 217702	NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys)	TCTN2 (G205C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 217701	NM_024809.5(TCTN2):c.76del (p.Asp26fs)	TCTN2 (D26fs)	Deletion (frameshift variant)	Familial aplasia of the vermis	GPathogenic
Select item 217700	NM_024809.5(TCTN2):c.76dup (p.Asp26fs)	TCTN2 (D26fs)	Duplication (frameshift variant)	Familial aplasia of the vermis	GPathogenic
Select item 217699	NM_024809.5(TCTN2):c.1291G>T (p.Glu431Ter)	TCTN2 (E431* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis	GPathogenic
Select item 217698	NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys)	TCTN2 (I584K +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
Select item 217697	NM_024809.5(TCTN2):c.1626del (p.Asp543fs)	TCTN2 (D542fs +1 more)	Deletion (frameshift variant)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 217696	NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg)	TCTN2 (G373R +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +2 more	GConflicting classifications of pathogenicity
Select item 217695	NM_015272.5(RPGRIP1L):c.3701+1G>T	RPGRIP1L	Single nucleotide variant (splice donor variant)	Joubert syndrome 7	GPathogenic
Select item 217694	NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)	RPGRIP1L (R1097* +3 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +6 more	GPathogenic
Select item 217693	NM_015272.5(RPGRIP1L):c.1243+1G>A	RPGRIP1L	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 217692	NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs)	RPGRIP1L (W378fs)	Deletion (frameshift variant)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 217691	NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs)	RPGRIP1L (Y574fs)	Deletion (frameshift variant)	Joubert syndrome 7	GPathogenic
Select item 217690	NM_015272.5(RPGRIP1L):c.2305-1G>A	RPGRIP1L	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 7	GPathogenic
Select item 217689	NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)	PIBF1 (R405Q)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 33 +2 more	GConflicting classifications of pathogenicity
Select item 217688	NM_006346.4(PIBF1):c.1669del (p.Leu557fs)	PIBF1 (L557fs +1 more)	Deletion (frameshift variant +1 more)	Familial aplasia of the vermis	GLikely pathogenic
Select item 217687	NM_003611.3(OFD1):c.149A>G (p.His50Arg)	OFD1 (H50R)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 10 +3 more	GConflicting classifications of pathogenicity
Select item 217686	NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter)	OFD1 (R890* +2 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +4 more	GPathogenic
Select item 217685	NM_003611.3(OFD1):c.277G>T (p.Val93Phe)	OFD1 (V93F)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 10	GPathogenic
Select item 217684	2q13 deletion		Deletion	Joubert syndrome with renal defect	GPathogenic
Select item 217683	NM_017777.4(MKS1):c.1389G>T (p.Arg463=)	MKS1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 217682	NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)	MKS1 (R165C)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 217681	NM_017777.4(MKS1):c.1261C>T (p.Pro421Ser)	MKS1 (P421S +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GPathogenic
Select item 217680	NM_017777.4(MKS1):c.767_768insC (p.Glu256fs)	MKS1 (E256fs +1 more)	Insertion (frameshift variant)	Familial aplasia of the vermis	GPathogenic
Select item 217679	NM_017777.4(MKS1):c.950G>A (p.Gly317Glu)	MKS1 (G317E +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GPathogenic
Select item 217678	NM_017777.4(MKS1):c.1589-2A>T	MKS1	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis +1 more	GPathogenic/Likely pathogenic
Select item 217677	NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)	MKS1 (S372del +1 more)	Deletion (inframe_deletion)	Familial aplasia of the vermis +9 more	GPathogenic/Likely pathogenic
Select item 217676	NM_017777.4(MKS1):c.381del (p.Tyr128fs)	MKS1 (Y128fs)	Deletion (5 prime UTR variant +1 more)	Familial aplasia of the vermis	GPathogenic
Select item 217675	NM_017777.4(MKS1):c.55G>T (p.Asp19Tyr)	LOC130061271, MKS1 (D19Y)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 217674	NM_017777.4(MKS1):c.262-179_262-37del	MKS1	Deletion (intron variant)	Familial aplasia of the vermis	GPathogenic
Select item 217673	NM_017777.4(MKS1):c.1528dup (p.Arg510fs)	MKS1 (R307fs +3 more)	Duplication (frameshift variant)	Familial aplasia of the vermis	GPathogenic
Select item 217672	NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)	MKS1 (S403L +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 217671	NM_198525.3(KIF7):c.2917C>T (p.Arg973Ter)	KIF7 (R973*)	Single nucleotide variant (nonsense)	Acrocallosal syndrome	GPathogenic
Select item 217670	NM_198525.3(KIF7):c.3331C>T (p.Arg1111Ter)	KIF7, LOC126862216 (R1111*)	Single nucleotide variant (nonsense)	Acrocallosal syndrome	GPathogenic
Select item 217669	NM_001329943.3(KIAA0586):c.643C>T (p.Gln215Ter)	KIAA0586 (Q268* +5 more)	Single nucleotide variant (nonsense)	Joubert syndrome 23 +1 more	GPathogenic
Select item 217668	NM_001329943.3(KIAA0586):c.1571_1575del (p.Leu524fs)	KIAA0586 (L524fs +5 more)	Deletion (frameshift variant)	Joubert syndrome 23	GPathogenic
Select item 217667	NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 217666	NM_001329943.3(KIAA0586):c.1271_1274delinsGA (p.Glu424fs)	KIAA0586 (E284fs +5 more)	Indel (frameshift variant)	Joubert syndrome 23	GPathogenic
Select item 217665	NM_019892.6(INPP5E):c.1468G>T (p.Asp490Tyr)	INPP5E (D490Y +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 217664	NM_019892.6(INPP5E):c.1249T>C (p.Ser417Pro)	INPP5E (S417P)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GPathogenic
Select item 217663	NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu)	INPP5E (V388L)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 217662	NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu)	INPP5E (P315L)	Single nucleotide variant (missense variant)	INPP5E-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 217661	NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser)	INPP5E (G341S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 217660	NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu)	INPP5E (P526L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 217659	NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr)	INPP5E (C385Y)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 217658	NM_019892.6(INPP5E):c.1897_1898del (p.Gln633fs)	INPP5E (Q632fs +1 more)	Deletion (frameshift variant)	Familial aplasia of the vermis	GPathogenic
Select item 217657	NM_019892.6(INPP5E):c.1754G>A (p.Arg585His)	INPP5E (R585H +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 217656	NM_019892.6(INPP5E):c.1760del (p.Val587fs)	INPP5E (V586fs +1 more)	Deletion (frameshift variant)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic

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